遗传性出血性毛细血管扩张症：儿科医生入门指南。

IF 5.4 3区材料科学 Q2 CHEMISTRY, PHYSICAL

ACS Applied Energy Materials Pub Date : 2024-08-02 DOI:10.1016/j.prrv.2024.07.003

Yoshua Selvadurai, Emily R Le Fevre, Jonathan Mervis, Dominic A Fitzgerald

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引用次数: 0

摘要

遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性遗传病，其特征是小的毛细血管扩张和大的多系统动静脉畸形（AVM）。动静脉畸形的常见部位包括鼻、肺、脑和肝。这些病变容易破裂，导致包括反复鼻衄和大出血在内的并发症。肺动脉高压（PH）也可能发生。本综述介绍了遗传学、临床表现、治疗方案和 HHT 儿童筛查建议的最新进展。

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Hereditary haemorrhagic telangiectasia: A primer for the paediatrician.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by small telangiectasias and larger multisystem arteriovenous malformations (AVMs). Common sites of AVMs include in the nose, lungs, brain and liver. These lesions are prone to rupture, leading to complications including recurrent epistaxis and significant haemorrhage. Pulmonary hypertension (PH) can also occur. This review presents an update on the genetics, clinical manifestations, management options, and screening recommendations for children with HHT.

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来源期刊

ACS Applied Energy Materials Materials Science-Materials Chemistry

CiteScore

10.30

自引率

6.20%

发文量

1368

期刊介绍： ACS Applied Energy Materials is an interdisciplinary journal publishing original research covering all aspects of materials, engineering, chemistry, physics and biology relevant to energy conversion and storage. The journal is devoted to reports of new and original experimental and theoretical research of an applied nature that integrate knowledge in the areas of materials, engineering, physics, bioscience, and chemistry into important energy applications.